Canonical Allele Identifier: CA1266820823
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691670845

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85546434_85546435del , CM000664.2:g.85546434_85546435del GRCh38
NC_000002.11:g.85773557_85773558del , CM000664.1:g.85773557_85773558del GRCh37
NC_000002.10:g.85627068_85627069del NCBI36
NG_011811.2:g.20101_20102del
NG_029183.1:g.12457_12458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233838.9:c.*3500_*3501del MANE Select ENSP00000233838.3:n.*3500_*3501del
ENST00000233838.8:c.*3500_*3501del ENSP00000233838.3:n.*3500_*3501del
NM_000821.5:c.*3500_*3501del NP_000812.2:n.*3500_*3501del
NM_000821.6:c.*3500_*3501del NP_000812.2:n.*3500_*3501del
NM_001142269.2:c.*3500_*3501del NP_001135741.1:n.*3500_*3501del
NM_001142269.3:c.*3500_*3501del NP_001135741.1:n.*3500_*3501del
NM_000821.7:c.*3500_*3501del MANE Select NP_000812.2:n.*3500_*3501del
NM_001142269.4:c.*3500_*3501del NP_001135741.1:n.*3500_*3501del